S56Y (p.Ser56Tyr) variant of CYP2E1 (Cytochrome P450 2E1)
S56Y (p.Ser56Tyr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S56Y (p.Ser56Tyr) variant details
- p.Ser56Tyr
- gnomAD 10-133527562-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.48
- MetaLR 0.45
- MetaSVM -0.44
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available